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Naji A. Kulaylat, MD; Hassib Narchi, MD; Walter W. Tunnessen Jr, MD
[+] Author Affiliations

Section Editor: Walter W. Tunnessen, MD

Arch Pediatr Adolesc Med. 2001;155(3):407-408. doi:10.1001/archpedi.155.3.407.
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A 4-MONTH-OLD infant with musculoskeletal anomalies had a history of poor feeding and hypotonia. He was born by breech delivery to a multigravida mother whose pregnancy was complicated by oligohydramnios and decreased fetal movements. At birth, the infant's hips were dislocated and a right femur fracture was detected. On physical examination, the infant had a round face with a midline, glabellar nevus flammeus and an upturned nose. A nasogastric tube was in place for feeding (Figure 1). The shoulders were sloped and internally rotated, and the left elbow was fixed in extension with flexion contractures of the wrist and hand in a "policeman tip" position (Figure 2). The lower extremities had decreased muscle mass with flexion contractures of both knees and talipes equinovarus deformities of the feet. Findings from laboratory studies were normal, including a serum creatine kinase, computed tomography of the brain, and electromyography. The karyotype was 46 XY.




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